Jung-Wolff-Back-Stahl syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 2321
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Frequent [Orphanet] 33 / 7739
2
 (HPO:0100037) Abnormality of the scalp hair Very frequent [Orphanet] 6 / 7739
3
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
4
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
5
 (HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
6
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
7
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
10
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
12
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
13
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
14
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
15
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
16
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
17
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
18
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
19
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: